E17* (p.Glu17Ter) variant of ATP1A2 (P50993)
E17* (p.Glu17Ter) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E17* (p.Glu17Ter) variant details
- p.Glu17Ter
- gnomAD 1-160120942-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available